Primary hyperoxaluria type 2

Common Name(s)

Primary hyperoxaluria type 2

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary hyperoxaluria type 2" for support, advocacy or research.

Oxalosis & Hyperoxaluria Foundation

To seek the cause, improve the clinical treatment and discover the cure of hyperoxaluria and oxalate stone disease and enhance the quality of life of patients and their families.

Last Updated: 19 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary hyperoxaluria type 2" for support, advocacy or research.

Oxalosis & Hyperoxaluria Foundation

To seek the cause, improve the clinical treatment and discover the cure of hyperoxaluria and oxalate stone disease and enhance the quality of life of patients and their families.

http://www.ohf.org/

Last Updated: 19 Mar 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Primary hyperoxaluria type 2" returned 8 free, full-text research articles on human participants. First 3 results:

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III.
 

Author(s): Bernd Hoppe

Journal: Nephrol. Dial. Transplant.. 2012 Aug;27(8):3024-6.

 

Last Updated: 1 Aug 2012

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4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition.
 

Author(s): Travis J Riedel, John Knight, Michael S Murray, Dawn S Milliner, Ross P Holmes, W Todd Lowther

Journal: Biochim. Biophys. Acta. 2012 Oct;1822(10):1544-52.

 

Mutations in the gene encoding for 4-hydroxy-2-oxoglutarate aldolase (HOGA) are associated with an excessive production of oxalate in Primary Hyperoxaluria type 3 (PH3). This enzyme is the final step of the hydroxyproline degradation pathway within the mitochondria and catalyzes the ...

Last Updated: 13 Aug 2012

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The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
 

Author(s): Emma L Williams, Detlef Bockenhauer, William G van't Hoff, Nikhil Johri, Chris Laing, Manish D Sinha, Robert Unwin, Adie Viljoen, Gill Rumsby

Journal: Nephrol. Dial. Transplant.. 2012 Aug;27(8):3191-5.

 

Mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene have been recently identified in patients with atypical primary hyperoxaluria (PH). However, it was not clearly established whether these mutations caused disease via loss of function or activation of the gene product.

Last Updated: 1 Aug 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Primary hyperoxaluria type 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biobank Protocol, Rare Diseases Clinical Research Network
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

 

Last Updated: 31 Dec 2013

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Primary Hyperoxaluria Mutation Genotyping
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 20 Dec 2013

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